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Articles Published Processes
1/11/2024 5:28:10 AM | Browse: 151 | Download: 419
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Received |
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2023-09-19 00:31 |
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Peer-Review Started |
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2023-09-19 00:32 |
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To Make the First Decision |
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Return for Revision |
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2023-11-20 07:49 |
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Revised |
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2023-12-01 14:42 |
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Second Decision |
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2023-12-22 02:45 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2023-12-22 06:46 |
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Articles in Press |
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2023-12-22 06:46 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2023-12-27 06:24 |
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Publish the Manuscript Online |
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2024-01-11 05:28 |
| ISSN |
2307-8960 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Biochemical Research Methods |
| Manuscript Type |
Case Report |
| Article Title |
Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Le Ding, Li-Wan Wei, Tai-Song Li and Jing Chen |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Key Health Science and Technology Development Project of Nanjing City, Jiangsu Province |
ZKX19038 |
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| Corresponding Author |
Jing Chen, MD, Doctor, Doctor, Institute of Neurology and Pediatrics, Children’s Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Gulou District, Nanjing 210000, Jiangsu Province, China. dr.chenj@njmu.edu.cn |
| Key Words |
Neurodevelopmental disorder; Seizure; SETD1B gene; Whole-exome sequencing; New mutation; Case reports |
| Core Tip |
This study identified three novel mutations in the SETD1B gene: c.5473C>T (p.Arg1825trp), c.4120C>T (p.Gln1374*, 593), c.14_15insC (p.His5Hisfs*33). The findings suggest that these mutations may result in overall developmental delays and intellectual disabilities, thereby broadening the known phenotypic spectrum of the SETD1B gene. Additionally, the study highlighted the potential pathological connection between SETD1B abnormalities and neurodevelopmental retardation associated with epilepsy. |
| Publish Date |
2024-01-11 05:28 |
| Citation |
Ding L, Wei LW, Li TS, Chen J. Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports. World J Clin Cases 2023; 12(2): 383-391 |
| URL |
https://www.wjgnet.com/2307-8960/full/v12/i2/383.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v12.i2.383 |
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